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Turchetti, Valentina
180  results:
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1

The clinical and genetic spectrum of inherited glycosylphos..:

Sidpra, Jai ; Sudhakar, Sniya ; Biswas, Asthik...
Brain.  , 2024
Link: https://doi.org/10.1093/..
 
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2

Analysis of C9orf72 repeat expansions in Georgian patients ..:

Kekenadze, Mariam ; Rocca, Clarissa ; Turchetti, Valentina...
F1000Research.  12 (2024)  - p. 1113 , 2024
Link: https://doi.org/10.12688..
 
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3

Alternative splicing expands the clinical spectrum of NDUFS..:

Armirola-Ricaurte, Camila ; Zonnekein, Noortje ; Koutsis, Georgios...
Genetics in Medicine.  26 (2024)  6 - p. 101117 , 2024
Link: https://doi.org/10.1016/..
 
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4

Not to Miss: Intronic Variants, Treatment, and Review of th..:

Pauly, Martje G. ; Brüggemann, Norbert ; Efthymiou, Stephanie...
International Journal of Molecular Sciences.  24 (2023)  3 - p. 1874 , 2023
Link: https://doi.org/10.3390/..
 
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5

Pure cerebellar ataxia due to bi‐allelic PRDX3 variants inc..:

Efthymiou, Stephanie ; Novis, Luiz E. ; Koutsis, Georgios...
Annals of Clinical and Translational Neurology.  10 (2023)  10 - p. 1910-1916 , 2023
Link: https://doi.org/10.1002/..
 
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6

Analysis of C9orf72 repeat expansions in Georgian patients ..:

Kekenadze, Mariam ; Rocca, Clarissa ; Turchetti, Valentina...
F1000Research.  12 (2023)  - p. 1113 , 2023
Link: https://doi.org/10.12688..
 
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7

Gain and loss of function variants in EZH1 disrupt neurogen..:

Gracia-Diaz, Carolina ; Zhou, Yijing ; Yang, Qian...
Nature Communications.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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8

Sn, a maize bHLH gene, modulates anthocyanin and condensed ..:

Robbins, Mark Paske ; Paolocci, Francesco ; Hughes, John-Wayne...
Journal of Experimental Botany.  54 (2003)  381 - p. 239-248 , 2003
Link: https://www.jstor.org/st..
 
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9

Gain and loss of function variants in EZH1 disrupt neurogen..:

Gracia-Diaz, Carolina ; Zhou, Yijing ; Yang, Qian...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10336078/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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10

Pure cerebellar ataxia due to bi‐allelic PRDX3 variants inc..:

Efthymiou, Stephanie ; Novis, Luiz E ; Koutsis, Georgios...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578881/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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11

Not to Miss: Intronic Variants, Treatment, and Review of th..:

Pauly, Martje G ; Brüggemann, Norbert ; Efthymiou, Stephanie...
https://discovery.ucl.ac.uk/id/eprint/10164447/1/ijms-24-01874-v2.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
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12

Pure cerebellar ataxia due to bi-allelic PRDX3 variants inc..:

Efthymiou, Stephanie ; Novis, Luiz E ; Koutsis, Georgios...
https://discovery.ucl.ac.uk/id/eprint/10175270/1/Ann%20Clin%20Transl%20Neurol%20-%202023%20-%20Efthymiou.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
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13

Gain and loss of function variants in EZH1 disrupt neurogen..:

Gracia-Diaz, Carolina ; Zhou, Yijing ; Yang, Qian...
https://boris.unibe.ch/184706/.  , 2023
Link: https://boris.unibe.ch/1..
 
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14

Gain and loss of function variants in EZH1 disrupt neurogen..:

Gracia-Diaz, Carolina ; Zhou, Yijing ; Yang, Qian...
https://discovery.ucl.ac.uk/id/eprint/10173395/1/Efthymiou_s41467-023-39645-5.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
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15

RP-PCR Traces:

Clarissa Rocca ; Mariam Kekenadze ; Valentina Turchetti...
doi:10.5522/04/23661813.v1.  , 2023
Link: https://doi.org/10.5522/..
 
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